Jung Seok Lee

Limitation of Brachial-Ankle Pulse Wave Velocity in Assessing the Risk of Stroke: Importance of Instantaneous Blood Pressure

Background and Objective: The carotid-femoral pulse wave velocity is a well-established index of aortic stiffness, and the brachial-ankle pulse wave velocity (baPWV) has recently been developed as a new method for evaluating arterial stiffness. However, whether the baPWV is also useful in evaluating the risk of stroke is currently controversial. Moreover, it is also unknown which types of stroke and neuroradiological findings are associated with increased arterial stiffness. We investigated the association between the baPWV and risk of stroke using a case-control design. Methods: This study enrolled 223 stroke patients (aged 65.6 ± 10.3 years, mean ± SD) and the same number of age- and sex-matched controls. All of the subjects in this study underwent a structured interview and had their vascular risk factors assessed. We reviewed brain magnetic resonance imaging and magnetic resonance angiography data of stroke patients to assessthe severity of white-matter hyperintensity lesions, number of cerebral microbleeds, and the stenosis of both intracranial and extracranial arteries. The baPWV was measured noninvasively by an oscillometric method. Results: The baPWV was most affected by the instantaneous systolic blood pressure, and was significantly higher in stroke patients than control subjects (1,721 ± 395 cm/s vs. 1,657 ± 366 cm/s, p = 0.03). However, the baPWV did not differ significantly with a specific type of stroke or subtype of ischemic stroke. Multiple regression analysis revealed that the baPWV was not independently associated with increased risk of stroke, or the severity of white-matter hyperintensity lesions or cerebral microbleeds. Conclusion: Although the baPWV was significantly higher in stroke patients than control subjects, it was not independently associated with increased risk of stroke or specific subtypes of ischemic stroke or neuroradiological findings.

Aspirin-associated intracerebral hemorrhage in a patient with CADASIL

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary disease characterized by ischemic stroke, cognitive impairment, migraine and neuropsychological deficit. Although intracerebral hemorrhage (ICH) has been described in patients with CADASIL, the cause of such ICH is still unknown. We present a 39-year-old man with CADASIL who had two years history of untreated hypertension. In this patient, acute ICH developed only two weeks after the initiation of aspirin. Brain images demonstrated a 3cmx3cm hyperacute ICH in the left temporal lobe at the site of previous old hemorrhage. The presence of cerebral microbleed and use of antithrombotics may be associated with development of ICH in patients with CADASIL.

Chronic Daily Headache With Analgesics Overuse in Professional Women Breath‐Hold Divers

Objective.— The object of this study is to investigate the prevalence and characteristics of headache in Korean professional women breath‐hold divers, including their overuse of analgesics.

Olfactory identification deficits in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

Background/Aims: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited angiopathy caused by mutations of the Notch 3 gene. Olfactory identification deficits are present in a number of neurodegenerative disorders. However, olfaction has not been investigated in CADASIL. The aim of the present study was to assess olfactory identification in CADASIL and to determine whether there is an association between olfactory identification and the frontotemporal lobe. Methods: Twenty-seven patients and 27 control subjects had an olfactory identification test and neuropsychological testing. Brain MRIs were obtained from 25 patients. Involvement of frontal white matter, anterior temporal white matter and the external capsule were measured. Results: Olfactory identification scores were lower in CADASIL patients than in healthy comparison subjects. The Mini-Mental Status Examination (MMSE) and semantic Controlled Oral Word Association Test (COWAT) were also affected. In CADASIL patients, olfactory identification scores correlated with MMSE, COWAT scores and Scheltens’ scores from frontal white matter. The tendency for an association between olfactory identification scores and Scheltens’ scores from anterior temporal white matter was also observed. Conclusion: Our findings suggest that olfactory identification deficits may be a sensitive indicator of frontotemporal dysfunction in CADASIL.

Adult Sandhoff Disease With 2 Mutations in the HEXB Gene Presenting as Brachial Amyotrophic Diplegia

Sandhoff disease is a rare autosomal recessive metabolic disorder of GM2 gangliosides. It is caused by a lack of functional N-acetyl-β-D-glucosaminidase A and B because of mutations in the HEXB gene. We describe a 55-year-old woman with adult Sandhoff disease presenting as brachial amyotrophic diplegia. The assay of total hexosaminidase involving A and B showed decreased level of these activities. Hex-A was 4.6 nmol·min·mL (normal: 7.0-20.0 nmol·min·mL) and Hex-B was 0.1 nmol·min·mL (normal: 1.0-10.0 nmol·min·mL), respectively. Analysis of HEXB gene demonstrated 2 point mutations that were located at the exon 5 (c.619A>G) and exon 11 (c.1250C>T). Compound heterozygosity of these 2 mutations may trigger the development of distinct adult Sandhoff disease phenotype. Sandhoff disease should be considered in the differential diagnosis of lower motor neuron disease, such as brachial amyotrophic diplegia, even if the age at onset is more than 50 years.

An unusual pathologic feature and phenotype associated with familial hyperkalemic periodic paralysis

Sir, Hyperkalemic periodic paralysis (HyperPP) is characterized by recurrent attacks of limb weakness which may last from minutes to hours. Serum creatine kinase (CK) levels are sometimes mildly elevated in HyperPP patients during an attack. Muscle biopsy may show vacuolar change or tubular aggregates [1,2]. We describe a patient with an atypical HyperPP phenotype and a muscle biopsy showing mononuclear cell infiltration in the endomysium. A 27-year-old man was admitted because of muscle weakness in his lower extremities. He had calf hypertrophy but no focal or generalized muscle atrophy. He first experienced limb weakness at age 7. The attacks occurred repeatedly at intervals of 3–4 months, and they tended to occur in the morning after a fast. He reported experiencing attacks of complete limb paralysis that would render him totally dependent for up to 1 week during childhood and adolescence. The duration and frequency of the attacks decreased insidiously as the patient grew older. The patient s father had experienced periodic paralysis that gradually faded with age, but he continued to show a mildly elevated CK value and myotonic discharges on electromyography. The family pedigree showed an autosomal dominant inheritance pattern. The duration of the attacks varied from less than 1 h to more than 2 weeks amongst the affected family members. The serum CK level on admission was 3587 IU/l and the potassium level was 5.4 mEq/l. The presenting attack was not associated with exercise or fasting. The potassium level soon normalized but the level of CK remained high for 2 weeks even though his symptoms spontaneously resolved within 1 week. His CK value gradually decreased but did not fall into the normal range. Electromyography showed myotonic discharges and fibrillation potentials in all extremities, but clinical myotonia and paramyotonia were not observed. The prolonged exercise test was not performed. Biopsy from the vastus lateralis muscle which was saved during an electromyography study showed size variation in myofibers, vacuolar changes, many internal nuclei and mononuclear cell infiltration. The infiltrates were predominantly endomysial and showed patchy distribution. Most of the invading cells were T8 cells, and the rest were macrophages with a few T4 cells. There was no invasion of non-necrotic muscle fibers by inflammatory cells. The invaded fibers did not express major histocompatibility complex (MHC) class I molecules. Molecular analysis of the SCN4A gene revealed an A–G transition causing the substitution of valine for methionine at codon 1592 (Fig. 1). The hallmarks of HyperPP are recurrent episodes of skeletal muscle weakness followed by complete recovery, increase in serum potassium concentrations during attack and insertional myotonic discharge [3,4]. The patient in this study exhibited the clinical and electrophysiological features of HyperPP. However, he also showed atypical features with a long duration of weakness and a markedly increased CK value in comparison to that of classic HyperPP. Interestingly, muscle biopsy showed evidence of an inflammatory myopathy as well as usual hyperkalemic myopathic changes. The widespread fibrillation potentials on electromyography most probably suggested active myopathic changes. However, the high CK value and weakness observed in this patient spontaneously resolved without immunomodulation therapy. In addition,

Myasthenia Gravis Appearing After Thymectomy: a Case Report and Review of the Literature

A small proportion of thymoma patients without myasthenia gravis (MG) have been observed to develop MG after total removal of the thymoma. However, the underlying cause is not yet known due to the rarity of postoperative MG patients. We report a 39-year-old man in whom MG appeared after surgical removal of a thymoma. Computed tomography and magnetic resonance imaging showed no signs of recurrent or metastatic thymoma. Administration of pyridostigmine bromide resulted in the prompt improvement of myasthenic symptoms. Our observations indicate that postoperative follow-up care with monitoring of possible postoperative MG is necessary after resecting a thymoma.